Oral Hemorrhage in a 3-year-old Boy Caused by Self-Mutilating Behavior

A 3-year-old boy referred for persistent tongue bleeding was diagnosed with a rare self-mutilating disease that had also affected his lip and fingers. He underwent multiple odontectomy and partial glossectomy and continues to undergo behavior therapy and on-demand splints and restraints. He has stopped self-biting and has gained appetite and weight. Lesch-Nyhan Syndrome can cause significant morbidity including self-inflicted oral hemorrhage and emergent measures are not easily decided. The long-term management of its neurobehavioral symptoms is problematic and multidisciplinary, and health providers remain challenged to find the best treatment, prolong lifespan and improve quality of life within their respective contexts.

macerated and actively bleeding.(Fig. 1 A, B, C) The tips of both index fingers were amputated and the distal left thumb was eroded, with raw and necrotic areas.(Fig. 2 A, B, C) Following an earnest conversation, the boy agreed to continue biting on a gauze pad, and to signal when he felt a compulsion to bite his fingers, in order for arm restraints to be secured.He assented, and his mother consented to multiple odontectomy, partial glossectomy and debridement, control of bleeders and tongue repair under general anesthesia.
Post-operatively, his tongue, gums and digits healed uneventfully.Behavior modification was continued, with extinction and positive reinforcement helping gradually control his biting behavior.He was advised regular follow-up while waiting for permanent dentition to erupt, when oral appliances could be fitted, and lip reconstruction planned.

DISCUSSION
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive error of metabolism associated with deficient enzymatic activity of hypoxanthineguanine phosphoribosyl transferase (HPRT). 1 It was first described by Lesch and Nyhan in two brothers presenting with hematuria, motor development delay, choreoathethosis, and badly mutilated lips and mouth 2 although Catel and Schimdt previously reported an infant with hyperuricemic encephalopathy who was later shown to have HPRT deficiency. 3Although the pathways leading from genotype to phenotype remain unclear, 4 the characteristic neuropsychiatric manifestations of LNS may be caused by aberrant development of HPRT-deficient dopaminergic neurons. 5By mechanisms that still need to be elucidated, this manifests with self-mutilating behavior, including uncontrolled self-biting of the lips, tongue and buccal area that may seriously compromise the airway by causing massive bleeding that may require emergent management.
While there is little room for argument regarding immediate surgical soft-tissue hemostasis (in this case, through partial glossectomy and debridement), the need for odontectomy is a difficult management choice in the face of such compulsive, "severe and recurrent self-injurious behavior," but it "should not be delayed when biting is severe". 6In our case, the functional and cosmetic consequences of complete extraction far outweighed the benefits of retaining dentition.
Intraoral devices may have been an option, but they are "not free of complications," and "therapy must be individualized" in the absence  of "standardized treatment protocols". 7They may still be utilized for future permanent dentition, following maximal multi-modal therapy including pharmacotherapy, psychosocial counseling and behavioral intervention.
Although their usefulness has been well described, behavioral interventions "have been limited in number and long-term success". 8In our case, earnest communication after establishing rapport was successful in initially modifying self-injurious behavior.Investigative therapies including gabapentin to "improve self-injurious behavior" 1,9 and botulinum toxin masseteric injections 10 as well as globus pallidus deep-brain stimulation or dopamine replacement therapy "need to prove to be efficacious and safe in the long-term management of these patients" 1 and (especially the latter) are not easily available or accessible in low-and middleincome countries such as ours.
Indeed, Lesch-Nyhan syndrome can cause significant morbidity including self-inflicted oral hemorrhage, and the necessary emergent measures are not easily decided.The long-term management of its neurobehavioral symptoms is problematic and multidisciplinary, and health providers remain challenged to find the best treatment, prolong lifespan and improve quality of life within their respective contexts.
Grant Support & Financial Disclosures: None.

Fig. 2 :
Fig.2: Amputated tips of both index fingers-A: Right hand; B, C: Left hand with eroded distal left thumb.

Fig. 1 :
Fig.1: A: Absent central lower lip; B, C: Intraoperative views of macerated anterolateral third of left tongue.